Canonical Allele Identifier: CA344003726
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197091036C>G , CM000663.2:g.197091036C>G GRCh38
NC_000001.10:g.197060166C>G , CM000663.1:g.197060166C>G GRCh37
NC_000001.9:g.195326789C>G NCBI36
NG_015867.1:g.60659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2737G>C
ENST00000367409.9:c.9450G>C MANE Select ENSP00000356379.4:p.Trp3150Cys
ENST00000680265.1:c.9672G>C ENSP00000505384.1:p.Trp3224Cys
ENST00000680710.1:c.9426G>C ENSP00000506676.1:p.Trp3142Cys
ENST00000294732.11:c.4695G>C ENSP00000294732.7:p.Trp1565Cys
ENST00000367408.5:c.2445G>C ENSP00000356378.1:p.Trp815Cys
ENST00000367409.8:c.9450G>C ENSP00000356379.4:p.Trp3150Cys
ENST00000612785.1:c.3408G>C ENSP00000479244.1:p.Trp1136Cys
NM_001206846.1:c.4695G>C NP_001193775.1:p.Trp1565Cys
NM_018136.4:c.9450G>C NP_060606.3:p.Trp3150Cys
NM_018136.5:c.9450G>C MANE Select NP_060606.3:p.Trp3150Cys
NM_001206846.2:c.4695G>C NP_001193775.1:p.Trp1565Cys